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NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 25, 2018
Accession:
VCV000287977.2
Variation ID:
287977
Description:
single nucleotide variant
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NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)

Allele ID
272214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q13.3
Genomic location
11: 68917883 (GRCh38) GRCh38 UCSC
11: 68685351 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_002180.2:c.1060G>A NP_002171.2:p.Gly354Ser missense
LRG_250:g.19033G>A
LRG_250t1:c.1060G>A LRG_250p1:p.Gly354Ser
... more HGVS
Protein change
G354S
Other names
-
Canonical SPDI
NC_000011.10:68917882:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA10605930
dbSNP: rs886043773
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 12, 2016 RCV000596478.1
Likely pathogenic 1 criteria provided, single submitter Sep 25, 2018 RCV000819925.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IGHMBP2 - - GRCh38
GRCh37
823 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 12, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000701225.2
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (2)
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Sep 25, 2018)
criteria provided, single submitter
Method: clinical testing
Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
Allele origin: germline
Invitae
Accession: SCV000960612.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces glycine with serine at codon 354 of the IGHMBP2 protein (p.Gly354Ser). The glycine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth. Litvinenko I Journal of child neurology 2014 PMID: 23449687
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. Giannini A Intensive care medicine 2006 PMID: 16964485
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=IGHMBP2 - - - -

Text-mined citations for rs886043773...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021